Incidental Mutation 'R5616:Fkbp4'
| ID |
439532 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fkbp4
|
| Ensembl Gene |
ENSMUSG00000030357 |
| Gene Name |
FK506 binding protein 4 |
| Synonyms |
FKBP-52, FKBP52 |
| MMRRC Submission |
043159-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.793)
|
| Stock # |
R5616 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
128407066-128415619 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 128410517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 273
(V273E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032508]
[ENSMUST00000150387]
[ENSMUST00000151796]
|
| AlphaFold |
P30416 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032508
AA Change: V273E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000032508
Gene: ENSMUSG00000030357
AA Change: V273E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FKBP_C
|
43 |
135 |
2.6e-33 |
PFAM |
|
Pfam:FKBP_C
|
160 |
250 |
1.3e-14 |
PFAM |
|
TPR
|
270 |
303 |
4.44e1 |
SMART |
|
TPR
|
319 |
352 |
1.76e-5 |
SMART |
|
TPR
|
353 |
386 |
2e-4 |
SMART |
|
low complexity region
|
419 |
431 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139448
|
| SMART Domains |
Protein: ENSMUSP00000114939
Gene: ENSMUSG00000030357
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FKBP_C
|
43 |
135 |
3.8e-33 |
PFAM |
|
Pfam:FKBP_C
|
160 |
250 |
2.5e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150387
AA Change: V226E
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119930
Gene: ENSMUSG00000030357
AA Change: V226E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FKBP_C
|
1 |
88 |
7.8e-31 |
PFAM |
|
Pfam:FKBP_C
|
113 |
203 |
4.7e-13 |
PFAM |
|
Blast:TPR
|
223 |
256 |
3e-14 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151796
|
| SMART Domains |
Protein: ENSMUSP00000122087
Gene: ENSMUSG00000030357
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FKBP_C
|
1 |
88 |
3.7e-31 |
PFAM |
|
Pfam:FKBP_C
|
113 |
187 |
3.2e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It has high structural and functional similarity to FK506-binding protein 1A (FKBP1A), but unlike FKBP1A, this protein does not have immunosuppressant activity when complexed with FK506. It interacts with interferon regulatory factor-4 and plays an important role in immunoregulatory gene expression in B and T lymphocytes. This encoded protein is known to associate with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock proteins (hsp90 and hsp70) and thus may play a role in the intracellular trafficking of hetero-oligomeric forms of the steroid hormone receptors. This protein correlates strongly with adeno-associated virus type 2 vectors (AAV) resulting in a significant increase in AAV-mediated transgene expression in human cell lines. Thus this encoded protein is thought to have important implications for the optimal use of AAV vectors in human gene therapy. The human genome contains several non-transcribed pseudogenes similar to this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Homozygous null males show reproductive tissue defects consistent with androgen insensitivity such as ambiguous external genitalia, dysgenic prostate, malformed seminal gland and cryptorchism. Males also exhibit hypospadia and infertility. Females are sterile due to failure of implantation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
A |
T |
3: 121,566,009 (GRCm39) |
D443E |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,252,874 (GRCm39) |
D1037G |
probably benign |
Het |
| B3glct |
T |
A |
5: 149,653,399 (GRCm39) |
L148* |
probably null |
Het |
| Cacna1e |
G |
A |
1: 154,317,940 (GRCm39) |
P1481S |
probably damaging |
Het |
| Cacna1h |
C |
A |
17: 25,596,641 (GRCm39) |
R117L |
probably damaging |
Het |
| Cct6b |
A |
T |
11: 82,632,175 (GRCm39) |
V271E |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,389,483 (GRCm39) |
S1450P |
probably damaging |
Het |
| Cul1 |
G |
A |
6: 47,500,722 (GRCm39) |
R707H |
probably damaging |
Het |
| Dcakd |
A |
G |
11: 102,885,831 (GRCm39) |
L191P |
possibly damaging |
Het |
| Dhx32 |
T |
C |
7: 133,322,957 (GRCm39) |
*612W |
probably null |
Het |
| Disp1 |
T |
A |
1: 182,869,913 (GRCm39) |
T836S |
probably benign |
Het |
| Dppa4 |
T |
A |
16: 48,111,393 (GRCm39) |
V126D |
probably damaging |
Het |
| Fam98b |
A |
G |
2: 117,098,267 (GRCm39) |
T246A |
possibly damaging |
Het |
| Gpr31b |
A |
G |
17: 13,270,831 (GRCm39) |
Y113H |
probably damaging |
Het |
| Gpr33 |
T |
C |
12: 52,070,377 (GRCm39) |
I221V |
probably damaging |
Het |
| Klhl1 |
A |
G |
14: 96,755,729 (GRCm39) |
F9L |
probably benign |
Het |
| Larp4b |
T |
A |
13: 9,208,695 (GRCm39) |
N449K |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,492,647 (GRCm39) |
S1363P |
probably damaging |
Het |
| Lrrc8a |
T |
C |
2: 30,145,366 (GRCm39) |
V60A |
probably benign |
Het |
| Matn3 |
A |
G |
12: 8,998,195 (GRCm39) |
H51R |
probably benign |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mtrf1 |
T |
C |
14: 79,638,885 (GRCm39) |
C6R |
possibly damaging |
Het |
| Myh6 |
T |
C |
14: 55,194,038 (GRCm39) |
S784G |
probably benign |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Nipal3 |
T |
C |
4: 135,179,715 (GRCm39) |
Y401C |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,637,585 (GRCm39) |
E37G |
probably damaging |
Het |
| Pelp1 |
G |
A |
11: 70,285,688 (GRCm39) |
P727S |
possibly damaging |
Het |
| Prkca |
T |
C |
11: 107,869,169 (GRCm39) |
D472G |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,122,120 (GRCm38) |
H328R |
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,559,173 (GRCm39) |
E889K |
unknown |
Het |
| Rubcn |
T |
C |
16: 32,647,293 (GRCm39) |
D715G |
possibly damaging |
Het |
| Snurf |
C |
T |
7: 59,649,133 (GRCm39) |
E15K |
possibly damaging |
Het |
| Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
| Srp72 |
T |
G |
5: 77,135,781 (GRCm39) |
L237R |
probably damaging |
Het |
| Syne3 |
T |
C |
12: 104,921,937 (GRCm39) |
E406G |
probably damaging |
Het |
| Tgm2 |
A |
G |
2: 157,970,640 (GRCm39) |
S340P |
probably damaging |
Het |
| Trim41 |
GCCTAGGCGCCCA |
G |
11: 48,698,192 (GRCm39) |
|
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,653,657 (GRCm39) |
|
probably benign |
Het |
| Tsc22d2 |
G |
T |
3: 58,324,583 (GRCm39) |
|
probably benign |
Het |
| Vmn1r42 |
T |
C |
6: 89,822,084 (GRCm39) |
I162V |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,708,191 (GRCm39) |
|
probably null |
Het |
| Wnt3 |
T |
C |
11: 103,703,596 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Fkbp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01151:Fkbp4
|
APN |
6 |
128,412,754 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02215:Fkbp4
|
APN |
6 |
128,411,433 (GRCm39) |
splice site |
probably benign |
|
|
IGL02607:Fkbp4
|
APN |
6 |
128,411,433 (GRCm39) |
splice site |
probably benign |
|
|
IGL03186:Fkbp4
|
APN |
6 |
128,411,763 (GRCm39) |
missense |
probably benign |
|
|
IGL03238:Fkbp4
|
APN |
6 |
128,411,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0083:Fkbp4
|
UTSW |
6 |
128,409,370 (GRCm39) |
unclassified |
probably benign |
|
|
R0491:Fkbp4
|
UTSW |
6 |
128,412,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1652:Fkbp4
|
UTSW |
6 |
128,413,637 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1868:Fkbp4
|
UTSW |
6 |
128,409,453 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2010:Fkbp4
|
UTSW |
6 |
128,412,765 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2292:Fkbp4
|
UTSW |
6 |
128,413,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6478:Fkbp4
|
UTSW |
6 |
128,410,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7156:Fkbp4
|
UTSW |
6 |
128,412,787 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9182:Fkbp4
|
UTSW |
6 |
128,415,382 (GRCm39) |
missense |
probably benign |
|
|
R9445:Fkbp4
|
UTSW |
6 |
128,413,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9739:Fkbp4
|
UTSW |
6 |
128,410,728 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Fkbp4
|
UTSW |
6 |
128,410,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACCTGGTAGGCACGAGTGAC -3'
(R):5'- CGCTGAGCTGAGGTATGAAG -3'
Sequencing Primer
(F):5'- AGTGACTCCTGGATAGAGCCTC -3'
(R):5'- AAGTGCGGCTGAAGAGCTTTG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation